Mutagenetix > Incidental Mutation

Incidental Mutation 'R2352:Dgat1'

246231

Institutional Source

Beutler Lab

Gene Symbol

Dgat1

Ensembl Gene

ENSMUSG00000022555

Gene Name

diacylglycerol O-acyltransferase 1

Synonyms

D15Ertd23e

MMRRC Submission

040334-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.604) question?

Stock #

R2352 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76386215-76396153 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76386513 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 474 (I474V)

Ref Sequence

ENSEMBL: ENSMUSP00000023214 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023214] [ENSMUST00000072838] [ENSMUST00000228371] [ENSMUST00000228757] [ENSMUST00000226860] [ENSMUST00000228868] [ENSMUST00000227478] [ENSMUST00000226872] [ENSMUST00000229363]

AlphaFold

Q9Z2A7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023214
AA Change: I474V

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000023214
Gene: ENSMUSG00000022555
AA Change: I474V

Domain	Start	End	E-Value	Type
low complexity region	2	26	N/A	INTRINSIC
low complexity region	41	57	N/A	INTRINSIC
transmembrane domain	137	159	N/A	INTRINSIC
Pfam:MBOAT	162	485	8.4e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000072838

SMART Domains

Protein: ENSMUSP00000072617
Gene: ENSMUSG00000022556

Domain	Start	End	E-Value	Type
HSF	14	118	2.27e-66	SMART
Pfam:Vert_HS_TF	247	414	6e-65	PFAM
Pfam:Vert_HS_TF	412	503	1.9e-41	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159776

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159908

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160293

SMART Domains

Protein: ENSMUSP00000123779
Gene: ENSMUSG00000022555

Domain	Start	End	E-Value	Type
Pfam:MBOAT	41	201	4.3e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160294

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161499

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162813

Predicted Effect

probably benign
Transcript: ENSMUST00000228371

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228720

Predicted Effect

probably benign
Transcript: ENSMUST00000228757

Predicted Effect

probably benign
Transcript: ENSMUST00000226860

Predicted Effect

probably benign
Transcript: ENSMUST00000228868

Predicted Effect

probably benign
Transcript: ENSMUST00000227478

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228781

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227921

Predicted Effect

probably benign
Transcript: ENSMUST00000226872

Predicted Effect

probably benign
Transcript: ENSMUST00000228688

Predicted Effect

probably benign
Transcript: ENSMUST00000226238

Predicted Effect

probably benign
Transcript: ENSMUST00000229363

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162354

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230722

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229569

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230894

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231035

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230069

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230505

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an multipass transmembrane protein that functions as a key metabolic enzyme. The encoded protein catalyzes the conversion of diacylglycerol and fatty acyl CoA to triacylglycerol. This enzyme can also transfer acyl CoA to retinol. Activity of this protein may be associated with obesity and other metabolic diseases. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous inactivation of this gene leads to decreased percent body fat, resistance to diet-induced obesity, altered energy, glucose and triglyceride metabolism, alopecia, hair cycle and skin defects, and a lactation failure associated with impaired mammary gland growth during pregnancy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd28	C	T	14: 31,432,904 (GRCm39)	V548I	probably benign	Het
Aspm	T	C	1: 139,385,300 (GRCm39)	S315P	probably benign	Het
Caln1	G	T	5: 130,534,993 (GRCm39)	E70*	probably null	Het
Cd69	A	T	6: 129,246,567 (GRCm39)	W114R	probably damaging	Het
Cnbd2	T	C	2: 156,177,275 (GRCm39)	Y90H	probably damaging	Het
Crebrf	C	T	17: 26,961,320 (GRCm39)	S147F	probably damaging	Het
Cts7	A	T	13: 61,500,586 (GRCm39)	C320*	probably null	Het
Dmxl2	T	A	9: 54,301,146 (GRCm39)	I2322F	probably damaging	Het
Dnah11	A	T	12: 117,892,065 (GRCm39)	F3703I	probably damaging	Het
Foxb2	A	G	19: 16,850,433 (GRCm39)	L191P	unknown	Het
Gli3	A	T	13: 15,836,977 (GRCm39)	E453D	probably benign	Het
Gnl3	C	T	14: 30,738,783 (GRCm39)		probably null	Het
Golgb1	A	T	16: 36,718,921 (GRCm39)	T276S	probably damaging	Het
Grk4	T	C	5: 34,826,520 (GRCm39)	M40T	probably benign	Het
Hoxb1	A	G	11: 96,257,203 (GRCm39)	N184S	possibly damaging	Het
Insr	G	T	8: 3,242,593 (GRCm39)	T42N	probably damaging	Het
Iqgap3	A	G	3: 88,011,815 (GRCm39)	K836E	possibly damaging	Het
Kremen1	CGGG	CGGGGGG	11: 5,151,791 (GRCm39)		probably benign	Het
Leng9	T	A	7: 4,152,409 (GRCm39)	E89V	probably damaging	Het
Lhcgr	C	T	17: 89,049,727 (GRCm39)	V600I	possibly damaging	Het
Lima1	T	C	15: 99,692,396 (GRCm39)	N183S	probably benign	Het
Lmtk2	A	G	5: 144,110,729 (GRCm39)	D483G	probably benign	Het
Lpcat2b	T	G	5: 107,581,307 (GRCm39)	L212R	probably damaging	Het
Lrrc61	A	T	6: 48,545,806 (GRCm39)	I210F	probably benign	Het
Lypd8l	A	T	11: 58,503,676 (GRCm39)	L10H	probably damaging	Het
Lypd8l	G	A	11: 58,502,934 (GRCm39)	Q72*	probably null	Het
Med12l	C	T	3: 59,148,113 (GRCm39)	L977F	probably damaging	Het
Mical1	A	T	10: 41,358,229 (GRCm39)	D414V	probably benign	Het
Mmp14	C	T	14: 54,678,002 (GRCm39)	A541V	probably benign	Het
Mtmr10	A	G	7: 63,947,328 (GRCm39)	D81G	possibly damaging	Het
Myh1	G	A	11: 67,111,363 (GRCm39)	V1601M	probably benign	Het
Myo16	G	A	8: 10,644,905 (GRCm39)	D1746N	possibly damaging	Het
Neb	T	C	2: 52,177,348 (GRCm39)	Y1331C	probably damaging	Het
Otop2	T	C	11: 115,219,927 (GRCm39)	S256P	probably damaging	Het
Prl8a1	A	G	13: 27,759,572 (GRCm39)	L155P	probably damaging	Het
Rrp1b	A	T	17: 32,278,302 (GRCm39)	M658L	possibly damaging	Het
Sema4b	C	A	7: 79,870,627 (GRCm39)	A525D	probably damaging	Het
Slc13a5	T	A	11: 72,143,147 (GRCm39)	I369F	probably benign	Het
Slc22a18	T	C	7: 143,051,152 (GRCm39)	S344P	probably benign	Het
Slc25a4	A	C	8: 46,662,212 (GRCm39)	S149A	probably benign	Het
Smc2	A	T	4: 52,460,266 (GRCm39)	E547D	probably benign	Het
Stx8	A	G	11: 67,864,077 (GRCm39)	T46A	probably benign	Het
Tacr3	T	C	3: 134,560,631 (GRCm39)	V190A	probably benign	Het
Tdrkh	A	T	3: 94,336,467 (GRCm39)	K468M	possibly damaging	Het
Tmem145	T	C	7: 25,005,598 (GRCm39)	S4P	probably benign	Het
Tmem74	A	G	15: 43,730,506 (GRCm39)	I179T	probably damaging	Het
Vmn1r222	A	C	13: 23,416,683 (GRCm39)	W177G	probably benign	Het
Zfp426	T	C	9: 20,381,401 (GRCm39)	I529V	probably benign	Het
Zfp462	A	G	4: 55,008,313 (GRCm39)	Y93C	probably null	Het
Zfyve26	G	A	12: 79,330,890 (GRCm39)	T443I	probably damaging	Het
Zkscan16	A	C	4: 58,951,869 (GRCm39)	R181S	possibly damaging	Het

Other mutations in Dgat1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01874:Dgat1	APN	15	76,387,241 (GRCm39)	missense	probably damaging	1.00
IGL02713:Dgat1	APN	15	76,387,734 (GRCm39)	missense	probably damaging	1.00
R0510:Dgat1	UTSW	15	76,395,767 (GRCm39)	missense	possibly damaging	0.85
R0894:Dgat1	UTSW	15	76,387,199 (GRCm39)	missense	possibly damaging	0.55
R1525:Dgat1	UTSW	15	76,395,786 (GRCm39)	missense	probably benign
R1682:Dgat1	UTSW	15	76,387,219 (GRCm39)	missense	probably benign	0.03
R1740:Dgat1	UTSW	15	76,386,929 (GRCm39)	missense	probably damaging	1.00
R1817:Dgat1	UTSW	15	76,386,703 (GRCm39)	missense	probably damaging	1.00
R3012:Dgat1	UTSW	15	76,387,593 (GRCm39)	missense	possibly damaging	0.90
R3154:Dgat1	UTSW	15	76,386,721 (GRCm39)	missense	probably benign	0.27
R4059:Dgat1	UTSW	15	76,388,371 (GRCm39)	missense	possibly damaging	0.79
R4593:Dgat1	UTSW	15	76,388,889 (GRCm39)	missense	probably damaging	1.00
R5503:Dgat1	UTSW	15	76,386,394 (GRCm39)	unclassified	probably benign
R5818:Dgat1	UTSW	15	76,386,407 (GRCm39)	unclassified	probably benign
R5984:Dgat1	UTSW	15	76,386,458 (GRCm39)	missense	probably damaging	1.00
R6228:Dgat1	UTSW	15	76,387,493 (GRCm39)	missense	possibly damaging	0.89
R7352:Dgat1	UTSW	15	76,387,024 (GRCm39)	nonsense	probably null
R7625:Dgat1	UTSW	15	76,387,395 (GRCm39)	missense	possibly damaging	0.89
R8529:Dgat1	UTSW	15	76,387,237 (GRCm39)	missense	probably damaging	1.00
R9118:Dgat1	UTSW	15	76,386,718 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTGAGATTCAAATGCCATCC -3'
(R):5'- GAGGAGCTCTGCGAAGTTTG -3'

Sequencing Primer
(F):5'- CATCCCCAAGAGCAGGAGTAG -3'
(R):5'- GAAGTTTGTCCCGCTCAGC -3'

Posted On

2014-10-30